Variant report

Variant	nsv524262
Chromosome Location	chr7:136988572-136990721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62807018..62807608-chr7:136989360..136989935,2	MCF-7	breast:
2	chr7:136983518..136985110-chr7:136986061..136988614,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473355	chr7:136988572-136988573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116940505	chr7:136988649-136988650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573814467	chr7:136988655-136988656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35629859	chr7:136988677-136988678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542708477	chr7:136988782-136988783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17169064	chr7:136988804-136988805	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543347094	chr7:136988810-136988811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79746600	chr7:136988818-136988819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188433715	chr7:136988847-136988848	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531263916	chr7:136988862-136988863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544694208	chr7:136988892-136988893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564585288	chr7:136988904-136988905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs527276412	chr7:136988929-136988930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193187323	chr7:136988948-136988949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182879931	chr7:136988972-136988973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111869893	chr7:136988980-136988981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187166816	chr7:136989052-136989053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191517231	chr7:136989093-136989094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148845531	chr7:136989130-136989131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369557616	chr7:136989167-136989168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569858499	chr7:136989174-136989175	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183638965	chr7:136989185-136989186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373971664	chr7:136989203-136989204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533440349	chr7:136989267-136989268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs322350	chr7:136989278-136989279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13245564	chr7:136989304-136989305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34613755	chr7:136989346-136989347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533904506	chr7:136989352-136989353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370510590	chr7:136989356-136989357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529369670	chr7:136989357-136989358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554468485	chr7:136989396-136989397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574203935	chr7:136989431-136989432	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs322349	chr7:136989441-136989442	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370187758	chr7:136989446-136989447	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556379694	chr7:136989447-136989448	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576225645	chr7:136989490-136989491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189354697	chr7:136989560-136989561	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564604463	chr7:136989562-136989563	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142529569	chr7:136989571-136989572	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs13245911	chr7:136989606-136989607	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs193116705	chr7:136989622-136989623	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543837112	chr7:136989623-136989624	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150929400	chr7:136989658-136989659	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371518677	chr7:136989682-136989683	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563505809	chr7:136989702-136989703	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370597756	chr7:136989720-136989721	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532327573	chr7:136989761-136989762	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565420313	chr7:136989762-136989763	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112314797	chr7:136989764-136989765	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376233522	chr7:136989800-136989801	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
3	chr7:136975200-136991000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:136976600-136991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:136979200-136989800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:136979400-136990800	Enhancers	Brain Anterior Caudate	brain
7	chr7:136981600-136990200	Weak transcription	Fetal Lung	lung
8	chr7:136981600-136990800	Enhancers	Brain Hippocampus Middle	brain
9	chr7:136982600-136989000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:136982800-137008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:136983200-136989000	Enhancers	Brain Substantia Nigra	brain
12	chr7:136983800-136989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:136983800-136990600	Weak transcription	Fetal Heart	heart
14	chr7:136984000-136990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:136984200-136990800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:136984400-136990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:136985400-136990600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:136986200-136989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:136986800-136989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:136986800-136989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:136987000-136991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:136987600-136988600	Weak transcription	Brain Angular Gyrus	brain
23	chr7:136987600-136989000	Weak transcription	Fetal Brain Male	brain
24	chr7:136987800-136988600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:136987800-136989600	Weak transcription	Fetal Kidney	kidney
26	chr7:136987800-136991600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:136988000-136988600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:136988400-136990800	Enhancers	Fetal Brain Female	brain
29	chr7:136988600-136988800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:136988600-136989000	Enhancers	Brain Angular Gyrus	brain
31	chr7:136988600-136990800	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:136988800-136989200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:136989000-136989200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr7:136989000-136989200	Enhancers	Fetal Brain Male	brain
35	chr7:136989000-136989400	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr7:136989000-136989800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:136989000-136990200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:136989200-136989400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:136989200-136989600	Enhancers	Brain Substantia Nigra	brain
40	chr7:136989200-136989600	Weak transcription	Fetal Brain Male	brain
41	chr7:136989400-136989800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:136989400-136989800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:136989400-136990000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:136989400-136990000	Active TSS	NH-A	brain
45	chr7:136989400-136990600	Enhancers	Brain Angular Gyrus	brain
46	chr7:136989600-136989800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:136989600-136990000	Enhancers	Fetal Kidney	kidney
48	chr7:136989600-136991200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr7:136989600-136991800	Enhancers	Fetal Brain Male	brain
50	chr7:136989800-136990000	Enhancers	HUES48 Cell Line	embryonic stem cell

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